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SHOX, Dyschondrosteosis, and Turner Syndrome 

SHOX, Dyschondrosteosis, and Turner Syndrome
Chapter:
SHOX, Dyschondrosteosis, and Turner Syndrome
Author(s):

Jay W. Ellison

DOI:
10.1093/med/9780199934522.003.0098
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date: 28 February 2021

SHOX encodes a homeodomain-containing transcription factor that was discovered in a search for a short stature locus. Mutations in the gene or its enhancers can lead to short stature and specific skeletal abnormalities, and haploinsufficiency of SHOX contributes to the phenotype of Turner syndrome. Although the lack of an orthologous gene in rodents has made it difficult to study details of its developmental roles, recent work has uncovered clues to the regulation of the gene and function of the gene product. Proper levels of SHOX expression appear to be required for normal differentiation of chondrocytes in the growth plate, and progress is being made toward the identification of upstream regulators, downstream targets, and interacting protein partners. The developmental pathway in which SHOX operates is beginning to be uncovered.

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